Canonical Allele Identifier: CA360697782
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761726G>C , CM000667.2:g.110761726G>C GRCh38
NC_000005.9:g.110097426G>C , CM000667.1:g.110097426G>C GRCh37
NC_000005.8:g.110125325G>C NCBI36
NG_051334.1:g.28591G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1201G>C MANE Select ENSP00000348211.3:p.Ala401Pro
ENST00000355943.7:c.1201G>C ENSP00000348211.3:p.Ala401Pro
ENST00000447245.6:c.958G>C ENSP00000399717.2:p.Ala320Pro
ENST00000504098.1:c.763G>C ENSP00000425708.1:p.Ala255Pro
ENST00000509432.1:c.562G>C ENSP00000426604.1:p.Ala188Pro
ENST00000513706.2:n.2801G>C
ENST00000513807.5:c.715G>C ENSP00000421134.1:p.Ala239Pro
NM_001303249.1:c.958G>C NP_001290178.1:p.Ala320Pro
NM_001303250.1:c.928G>C NP_001290179.1:p.Ala310Pro
NM_138773.2:c.1201G>C NP_620128.1:p.Ala401Pro
NM_001303249.2:c.958G>C NP_001290178.1:p.Ala320Pro
NM_001303250.2:c.928G>C NP_001290179.1:p.Ala310Pro
NM_138773.3:c.1201G>C NP_620128.1:p.Ala401Pro
NR_138151.1:n.1475G>C
NM_138773.4:c.1201G>C MANE Select NP_620128.1:p.Ala401Pro
NM_001303249.3:c.958G>C NP_001290178.1:p.Ala320Pro
NM_001303250.3:c.928G>C NP_001290179.1:p.Ala310Pro
NR_138151.2:n.1440G>C